Alpha-1 antitrypsin deficiency

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Alpha-1 antitrypsin (A1AT) deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease (cirrhosis).

Causes

A1AT is a type of protein called a protease inhibitor. A1AT is made in the liver and it works to protect the lungs and liver.

A1AT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and North Americans of European descent.

Adults with severe A1AT deficiency will develop emphysema, often before 40 years of age. Smoking can increase the risk of emphysema.

Your health care provider may suspect you of having this condition if you develop:

Emphysema before age 45

Emphysema but you have never smoked or been exposed to toxins

Emphysema and you have a family history of the condition

Cirrhosis and no other cause can be found

Cirrhosis and you have a family history of liver disease

Treatment

Treatment for A1AT deficiency involves replacing the missing A1AT protein. The protein is given through a vein each week or every 4 weeks. This is only slightly effective at preventing more lung damage in people without end-stage disease. This procedure is called augmentation therapy.

If you smoke, you need to quit.

Other treatments are also used for emphysema and cirrhosis.

Outlook (Prognosis)

Some people with this deficiency will not develop liver or lung disease.

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